Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.P163P
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GUSB

NM_000181.4:p.P163P

Associated Papers

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E et al.

Brain : a Journal of Neurology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."